Pediatric Alport Syndrome

Pediatric Alport Syndrome

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Summary

Alport syndrome is a rare, inherited (genetic) condition that affects the kidneys and can sometimes cause problems with your child’s hearing and vision.

Expanded overview

Alport syndrome is a rare, genetic disorder that damages the tiny blood vessels called glomeruli in a child’s kidneys. When glomeruli are damaged, they are unable to filter waste and remove extra fluid from the body as needed. This causes a gradual loss of kidney function and can lead to kidney disease, kidney failure and eventually, end-stage renal disease (ESRD).

The genes affected by Alport syndrome control a protein called collagen. Collagen plays an important role in normal kidney function and affects the eyes and ears. Therefore, children with Alport syndrome may also suffer from abnormalities in their eyes and ears that can lead to vision and hearing loss. 

Types

There are three genetic types of Alport syndrome:

  • X-linked Alport syndrome (XLAS) - this is the most common type of Alport syndrome, caused by mutations in the COL4A5 gene located on the X chromosome.
  • Autosomal recessive Alport syndrome (ARAS) - this type of Alport syndrome happens when a child receives a copy of a defective gene from both parents.
  • Autosomal dominant Alport syndrome (ADAS) - this is the least common type of Alport syndrome, caused by mutations to the COL4A3 or COL4A4 genes.

Causes

Alport syndrome is caused by mutations (changes) to specific genes before a child is born.

Symptoms

Symptoms of Alport syndrome depend on the specific gene mutation. All children with Alport syndrome will have symptoms that affect the kidneys. Male children with Alport syndrome are more likely than females to have problems with hearing and vision. The first and most common symptom of Alport symptoms is usually hematuria (blood in the urine).

Other symptoms may include:

  • Edema (swelling in the ankles, legs and face)
  • Hypertension (high blood pressure)
  • Loss of kidney function
  • Progressive hearing loss
  • Proteinuria (protein in the urine)
  • Vision problems that affect the cornea, lens and retina

Rarely, chest and abdominal aneurysms may occur in males with Alport syndrome.

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